X-linked diffuse leiomyomatosis-Alport syndrome

Summary

X-linked diffuse leiomyomatosis-Alport syndrome (MONDO:0010641) is a disease. A subtype of kidney disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: Unknown (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 39

Clinical features

Signs & symptoms

Clinical features (HPO)

39 HPO clinical features (Orphanet curated; top 39 by frequency):

HPO ID	Term	Frequency
HP:0002015	Dysphagia	Very frequent (80-99%)
HP:0002031	Abnormal esophagus morphology	Very frequent (80-99%)
HP:0012718	Morphological abnormality of the gastrointestinal tract	Very frequent (80-99%)
HP:0100751	Esophageal neoplasm	Very frequent (80-99%)
HP:0000093	Proteinuria	Frequent (30-79%)
HP:0000112	Nephropathy	Frequent (30-79%)
HP:0000407	Sensorineural hearing impairment	Frequent (30-79%)
HP:0000478	Abnormality of the eye	Frequent (30-79%)
HP:0000518	Cataract	Frequent (30-79%)
HP:0000790	Hematuria	Frequent (30-79%)
HP:0001508	Failure to thrive	Frequent (30-79%)
HP:0002013	Vomiting	Frequent (30-79%)
HP:0002020	Gastroesophageal reflux	Frequent (30-79%)
HP:0002571	Achalasia	Frequent (30-79%)
HP:0003262	Smooth muscle antibody positivity	Frequent (30-79%)
HP:0006756	Diffuse leiomyomatosis	Frequent (30-79%)
HP:0010460	Abnormality of the female genitalia	Frequent (30-79%)
HP:0012622	Chronic kidney disease	Frequent (30-79%)
HP:0100749	Chest pain	Frequent (30-79%)
HP:0100771	Hypoperistalsis	Frequent (30-79%)
HP:0410281	Dyspepsia	Frequent (30-79%)
HP:0000491	Keratitis	Occasional (5-29%)
HP:0000545	Myopia	Occasional (5-29%)
HP:0001824	Weight loss	Occasional (5-29%)
HP:0002094	Dyspnea	Occasional (5-29%)
HP:0002205	Recurrent respiratory infections	Occasional (5-29%)
HP:0003774	Stage 5 chronic kidney disease	Occasional (5-29%)
HP:0006524	Tracheobronchial leiomyomatosis	Occasional (5-29%)
HP:0010450	Esophageal stenosis	Occasional (5-29%)
HP:0010614	Fibroma	Occasional (5-29%)
HP:0010784	Uterine neoplasm	Occasional (5-29%)
HP:0011501	Anterior lenticonus	Occasional (5-29%)
HP:0011951	Aspiration pneumonia	Occasional (5-29%)
HP:0012252	Abnormal respiratory system morphology	Occasional (5-29%)
HP:0012735	Cough	Occasional (5-29%)
HP:0030416	Vulvar neoplasm	Occasional (5-29%)
HP:0032141	Precordial pain	Occasional (5-29%)
HP:0040288	Nasogastric tube feeding	Occasional (5-29%)
HP:0100650	Vaginal neoplasm	Occasional (5-29%)

Identifiers

Disease identifiers

Field	Value
Canonical name	X-linked diffuse leiomyomatosis-Alport syndrome
Mondo ID	MONDO:0010641
MeSH	C537113
OMIM	308940
Orphanet	1018
UMLS	C1839884
MedGen	333429
GARD	0002432
Is cancer (heuristic)	no

Also known as: Alport syndrome with diffuse leiomyomatosis · ATS-DL · diffuse leiomyomatosis in Alport syndrome · DL-ATS · leiomyomatosis, diffuse, with Alport syndrome · Xq22.3 microdeletion syndrome

Disease family

This is a subtype of kidney disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › urinary system disorder › kidney disorder › X-linked diffuse leiomyomatosis-Alport syndrome

Related subtypes (56): renal hypertension, kidney failure, nephritis, impaired renal function disease, nephrocalcinosis, atheroembolism of kidney, renal artery disease, nephrosis, cystic kidney disease, anuria, stricture or kinking of ureter, proteinuria, renal infectious disease, diabetes insipidus, orthostatic proteinuria, kidney hypertrophy, chronic kidney disease, hydronephrosis, renal tubular transport disease, kidney cortex necrosis, kidney papillary necrosis, perinephritis, renal aminoaciduria, autosomal dominant progressive nephropathy with hypertension, nephrolithiasis, tubulointerstitial nephritis and uveitis syndrome, distal renal tubular acidosis, oligomeganephronia, duplication of urethra, renal tubular dysgenesis, exstrophy-epispadias complex, fetal lower urinary tract obstruction, IgG4-related kidney disease, congenital primary megaureter, renal nutcracker syndrome, renal hypoplasia, renal dysplasia, congenital megacalycosis, glomerular disorder, congenital renal artery stenosis, kidney neoplasm, renal tubule disorder, pyonephrosis, Arnold stickler bourne syndrome, C1q nephropathy, hypertensive nephropathy, atypical Fanconi syndrome-neonatal hyperinsulinism syndrome, idiopathic non-lupus full-house nephropathy, lachiewicz sibley syndrome, crush syndrome, obstructive nephropathy, inherited kidney disorder, acute tubulointerstitial nephritis, kidney cortex disease, non-syndromic supernumerary kidneys, neonatal renal venous thrombosis

Subtypes (1): leiomyoma of vulva and esophagus

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.